Difference between revisions of "2011 Group Project 2"

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==Historical Background==
 
==Historical Background==
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* '''Angelo DiGeorge'''. In the mid 1960's, Angelo DiGeorge noticed a similar combination of clinical features in some children. He named the syndrom after himself. The symptoms that he recognised were hypoparathyroidism, underdeveloped thymus, conotruncal heart defects and a cleft lip/palate. <ref>http://www.chw.org/display/PPF/DocID/23047/router.asp</ref>
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* '''Robert Shprintzen'' described patients with similar symptoms (cleft lip, heart defects, absent or underdeveloped thymus, hypocalcemia) and named the group of symptoms as velo-cardio-facial syndrome. <ref>http://digital.library.pitt.edu/c/cleftpalate/pdf/e20986v15n1.11.pdf</ref>
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* ''1980s'' technology develops to identify that these patients have part of a chromosome missing. <ref>http://www.chw.org/display/PPF/DocID/23047/router.asp</ref>
  
 
==Epidemiology==
 
==Epidemiology==

Revision as of 13:29, 18 August 2011

Note - This page is an undergraduate science embryology student group project 2011.
2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip


Introduction

A congenital disorder is one which is present at birth. They are often abnormalities that arise from errors that occur during development of the fetus. Some congenital abnormalities are genetic, and often run in families while others are spontaneous and have no genetic linkages. DiGeorge syndrome is a congenital abnormality that is caused by the deletion of a part of chromosome 22. The symptoms and severity of the condition is thought to be dependent upon what part of and how much of the chromosome is absent. [1]. About 1/4000 children born are affected by DiGeorge syndrome, with 90% of these cases involving a deletion of a section of chromosome 22 [2].

DiGeorge is a complex syndrome and patient cases vary greatly. The common symptoms present across numerous patients include

  • Abnormal faces
  • Congenital heart defects
  • Hypoparathyroidism with hypocalcemia
  • Cognitive, behavioral, and psychiatric problems
  • Increased susceptibility to infections
  • Hypoplasia or absence of the thyroid and parathyroid glands [3]

DiGeorge is quite often a spontaneous mutation, but it may be passed on in an autosomal dominant fashion. Some families have many members affected.

DiGeorge is a serious syndrome affecting many of the body systems. Additionally, there is currently no treatment and as such education is vital. [4]

Historical Background

  • Angelo DiGeorge. In the mid 1960's, Angelo DiGeorge noticed a similar combination of clinical features in some children. He named the syndrom after himself. The symptoms that he recognised were hypoparathyroidism, underdeveloped thymus, conotruncal heart defects and a cleft lip/palate. [5]
  • 'Robert Shprintzen described patients with similar symptoms (cleft lip, heart defects, absent or underdeveloped thymus, hypocalcemia) and named the group of symptoms as velo-cardio-facial syndrome. [6]
  • 1980s technology develops to identify that these patients have part of a chromosome missing. [7]

Epidemiology

Etiology

Pathogenesis

Dianostic Tests

Fluorescent in situ hybridisation [8]

Based on a combination of symptoms

Ultrasound

Amniocentesis

BACS-on-beads technology

Clinical Manifestations

Treatment

Further research possibilities

Glossary

References


2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip